A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3000096



Internal ID17293048
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:206310557..206353146hg38UCSC Ensembl
Outerchr1:206483901..206526500hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg3842590
hg1942600
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv952648
Supporting Variants
SamplesBILGI_BIOE
Known GenesSRGAP2, SRGAP2B, SRGAP2C
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv3000096
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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